HLA-DRB1、-DQB1基因多态性与食管鳞癌遗传关联性

The genetic susceptibility of HLA-DRB1,-DQB1 alleles in esophageal squamous cell carcinoma

目的 从基因水平探讨食管鳞癌HLA DRB1 , DQB1等位基因的遗传易感性 ,以阐述其免疫遗传学特征。方法 运用序列特异性引物聚合酶链反应技术 ,检测无亲缘关系湖北汉族健康人 1 36例、食管鳞癌患者 42例的HLA DRB1 , DQB1等位基因。结果 湖北汉族人食管鳞癌患者与正常人比较 ,HLA DRB1 0 90 1等位基因分布频率显著增高 (0 .2 50 0比 0 .1 397,P =0 .0 2 8,OR =2 .0 53 ,病因分数 =0 .1 2 82 ) ,HLA DQB1 0 30 1基因分布频率显著增高 (0 .2 976比 0 .1 875 ,P =0 .0 4 6 ,OR =1 .835 ,病因分数 =0 .1 35 4)。两者间其余HLA DRB1、 DQB1等位基因分布频率差异均无显著性。结论 HLA DRB1 0 90 1及 DQB1 0 30 1等位基因均与食管鳞癌正关联 ,为其易感基因。该两等位基因测序结果与其基因库第 2外显子序列吻合。

Objective To probe into the association between the polymorphisms of HLA DRB1, DQB1 alleles and esophageal squamous cell carcinomas and then to further examine the features of their immunogenetics. Methods The polymorphisms of HLA DRB1, DQB1 alleles were typed by sequence specific primer based on polymerase chain reaction in 42 patients with esophageal squamous cell cancer and 136 normal control subjects. Results Allele frequency of HLA DRB1 *0901 allele was significantly higher in esophageal cancer patients than that in normal controls ( 0.250 0 vs 0.139 7 , P = 0.028 , odd ratio= 2.053 , etiologic fraction= 0.128 2 ) and so was allele frequency of HLA DQB1 * 0301 ( 0.297 6 vs 0.187 5 , P = 0.046 , odd ratio 1.835 , etiologic fraction 0.135 4 ). There was no association between the rested alleles of HLA DRB1 and DQB1 alleles in the patients. Conclusions Individuals carrying HLA DRB1 * 0901 and/or DQB1 * 0301 may be susceptible to esophageal squamous cell carcinoma, and nucleotide sequences of these two alleles were in accordance with the corresponded allele sequence (exon 2) of genebank.